Programme R1 · Flagship
Indian Cancer Variant Atlas & Population Genomics
Which variants seen in Indian patients are actually pathogenic?
The problem
Global variant databases are built overwhelmingly on European-ancestry data. When an Indian patient's tumour is sequenced, they receive a disproportionate share of results classified as 'variants of uncertain significance', findings nobody can act on.
This is not an abstract inequity. A variant nobody can classify is a treatment decision nobody can make. The patient has paid for a test that returns a shrug.
The questions
- Which variants observed in Indian patients are genuinely pathogenic, and which are simply under-represented in reference data?
- Which founder mutations recur in specific Indian subpopulations?
- Can ancestry-aware annotation reduce the uncertain-significance rate for Indian patients?
What we are contributing
We hold something a global genomics organisation cannot manufacture: a growing Indian cohort with matched molecular, clinical, treatment and outcome data, collected under a five-part consent framework with ethics oversight.
Every consented patient seen here adds to that. It is the one asset in this institution that cannot be bought, hired or copied, a competitor can rent a sequencer in a week and hire an oncologist in a month, but cannot reproduce five years of characterised Indian cohort data.
The output feeds interpretation directly, which means the work changes what a patient's report says rather than sitting in a journal.
How the work is done
- Variant curation and re-classification pipelines
- Population frequency modelling across South Asian reference cohorts
- Ancestry-aware annotation and functional prediction
- Systematic literature and evidence mining
- Prospective accumulation of consented molecular, clinical and outcome data from our own case series
What it runs on
- Consented molecular profiles via OnKommon
- Public reference cohorts
- The institution's own accumulating case series
What it produces
- An ancestry-aware variant interpretation resource
- A re-classification methodology for variants of uncertain significance
- Founder-variant reports for specific subpopulations
- Peer-reviewed publications
Why it is not just science
How this changes care here
- Improves the interpretation returned on every genomic report ordered here
- Gives the tumour board a defensible reason to reach a different conclusion from a generic report
- Underwrites the scientific standing behind our certification standard
Funding fit
National biomedical and biotechnology funders; international collaborative consortia; diagnostic industry partnership.
What we are looking for
- Academic collaborators with South Asian reference cohort access
- Diagnostic industry partners for interpretation pipeline validation
- Funding for curation staff and compute
Deliberately empty
Publications, funding and results
Nothing appears in this section until it exists in writing. No paper in preparation, no grant under review, no result not yet published. That rule applies with particular force to a research page.